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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-18699796-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=18699796&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 18699796,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000266505.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1172G>T",
"hgvs_p": "p.Arg391Leu",
"transcript": "NM_033123.4",
"protein_id": "NP_149114.2",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 608,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": "ENST00000266505.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1172G>T",
"hgvs_p": "p.Arg391Leu",
"transcript": "ENST00000266505.12",
"protein_id": "ENSP00000266505.7",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 608,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": "NM_033123.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Arg432Leu",
"transcript": "ENST00000648272.1",
"protein_id": "ENSP00000497636.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 649,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 2320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.593G>T",
"hgvs_p": "p.Arg198Leu",
"transcript": "ENST00000539875.5",
"protein_id": "ENSP00000445026.1",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 415,
"cds_start": 593,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "n.*1037G>T",
"hgvs_p": null,
"transcript": "ENST00000318197.10",
"protein_id": "ENSP00000326397.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "n.*1037G>T",
"hgvs_p": null,
"transcript": "ENST00000318197.10",
"protein_id": "ENSP00000326397.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.860G>T",
"hgvs_p": "p.Arg287Leu",
"transcript": "NM_001330774.2",
"protein_id": "NP_001317703.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 504,
"cds_start": 860,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.593G>T",
"hgvs_p": "p.Arg198Leu",
"transcript": "NM_001330769.1",
"protein_id": "NP_001317698.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 415,
"cds_start": 593,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Arg173Leu",
"transcript": "ENST00000538330.5",
"protein_id": "ENSP00000445880.1",
"transcript_support_level": 2,
"aa_start": 173,
"aa_end": null,
"aa_length": 390,
"cds_start": 518,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.377G>T",
"hgvs_p": "p.Arg126Leu",
"transcript": "ENST00000540421.5",
"protein_id": "ENSP00000445889.1",
"transcript_support_level": 3,
"aa_start": 126,
"aa_end": null,
"aa_length": 264,
"cds_start": 377,
"cds_end": null,
"cds_length": 797,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Arg432Leu",
"transcript": "XM_017020176.2",
"protein_id": "XP_016875665.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 659,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1172G>T",
"hgvs_p": "p.Arg391Leu",
"transcript": "XM_017020177.2",
"protein_id": "XP_016875666.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 618,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Arg382Leu",
"transcript": "XM_017020178.2",
"protein_id": "XP_016875667.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 609,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Arg432Leu",
"transcript": "XM_047429827.1",
"protein_id": "XP_047285783.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 548,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.731G>T",
"hgvs_p": "p.Arg244Leu",
"transcript": "XM_017020182.2",
"protein_id": "XP_016875671.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 471,
"cds_start": 731,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 1515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.716G>T",
"hgvs_p": "p.Arg239Leu",
"transcript": "XM_017020183.2",
"protein_id": "XP_016875672.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 466,
"cds_start": 716,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.731G>T",
"hgvs_p": "p.Arg244Leu",
"transcript": "XM_024449254.2",
"protein_id": "XP_024305022.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 461,
"cds_start": 731,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.584G>T",
"hgvs_p": "p.Arg195Leu",
"transcript": "XM_017020184.2",
"protein_id": "XP_016875673.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 422,
"cds_start": 584,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.593G>T",
"hgvs_p": "p.Arg198Leu",
"transcript": "XM_024449255.2",
"protein_id": "XP_024305023.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 415,
"cds_start": 593,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Arg173Leu",
"transcript": "XM_017020185.3",
"protein_id": "XP_016875674.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 400,
"cds_start": 518,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 1568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Arg173Leu",
"transcript": "XM_047429828.1",
"protein_id": "XP_047285784.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 400,
"cds_start": 518,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "n.785G>T",
"hgvs_p": null,
"transcript": "ENST00000540270.5",
"protein_id": "ENSP00000443320.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
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{
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{
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}
],
"message": null
}